Article
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Human molecular genetics - 29 Sept 2020
Strayve Daniel, Makia Mustafa S, Kakakhel Mashal, Sakthivel Haarthi, Conley Shannon M, Al-Ubaidi Muayyad R, Naash Muna I
Abstract excerpt
Peripherin 2 (PRPH2) is a retina-specific tetraspanin protein essential for the formation of rod and cone photoreceptor outer segments (OS). Patients with mutations in PRPH2 exhibit severe retinal degeneration characterized by vast inter- and intra-familial phenotypic heterogeneity. To help understand contributors to this within-mutation disease variability, we asked whether the PRPH2 binding partner rod OS...
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